Sequencing Tumor And Germline DNA - Implications & National Guidelines

Project report

This is a brief status report for the STAGING project. The report contains no person-identifianble information and may be circulated to anyone interested.

By certain measures, STAGING is the largest childhood cancer research endeavor in Denmark, and we are very grateful to the many people contributing to inclusion, reporting results and many other aspects of running this project. Thank you!


Inclusion

Since the project start date, July 1st 2016, we have approached 847 patients, thier inclusion status is shown here:


Inclusion rate

Inclusion rate for the project as whole is: 80% [586 / 728]


Diagnosis

Distribution of diagnoses with catagories for patients that declined and accepted to participate in the STAGING, respectively:


Results

Of the 586 patients included in the study, 519 have recieved final results, meaning that 67 are currently waiting.

This plot shows the number of days from sample to reported final result, with a line showing the moving 10-patient average. You can mouse over to see additional information:


In STAGING, we analyze 314 genes in the germline DNA with known or suspected relation to cancer risk, as well as ACMG genes to covered by og cancergene panel. Thus far our multidisciplinary board has classified 5300 single nucleotide variants (SNVs) and 1513 structural variants (SVs) within these genes. A total of 4073 of the variants found were unique in the cohort. The following plot shows the distribution of classifications:

Secondary findings

In addition to genetic alterations related to cancer predisposition, we also come accross incidental findings. 33 of 586 included patients, or 6%, had an incidental finding. Actionability is judged on an individual level. The distribution of incidental variant findings are shown in this plot:

Please let me know if you have any questions, comments or suggestions, or would like to arrange access to data relevant to a project your working on.

Sincerely,

Ulrik Stoltze